Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review

Hereditary oncycho-osteodysplasia is a well-defined clinical entity consisting of four characteristics: (1) complete or partial absence of finger and thumb nails typically more severe on the radial side of the hand; (2) bony dysplasia about the knee consisting of patellar and lateral femoral condylar hypoplasia; (3) bony dysplasia about the elbow consisting of hypoplasia of the capitellum and radial head; and (4) iliac horns. The hereditary pattern is autosomal dominant with complete penetrance and variable expressivity. Other associated dysplasias have been reported, but there are only six articles reporting shoulder dysplasia and some of these are of questionable validity. This article reports the clinical and roentgenographic findings of a patient with an obvious deformity of the scapula consisting of a small acromion in both the anteroposterior (AP) and lateral planes. The acromion was deformed and slanted upwards at the lateral border. A slightly attenuated glenoid pointed laterally or slightly inferiorly, giving a humeral acromial interval of 2.5 cm.     

The small patella syndrome. A combination of knee and pelvic dysplasia

In 1979, using the name "small patella syndrome", Scott and Taor described a family in which hypoplasia or aplasia of the patella was inherited by autosomal dominant transmission. Hip dysplasias and pelvic changes accompanying the patellar changes have also been observed in some cases. On the basis of three personal observations this dysplasia syndrome is described in more detail and compared with the other syndromes involving the kneecap and pelvis. One case was discovered as a result of a femoropatellar pain syndrome, a second because of slight functional disturbances. The third case was a chance finding. Although, in two of the cases, several affections of the locomotor apparatus were found in the patients' families, it could not be confirmed that the syndrome was hereditary.     

The spinal manifestations of Stickler's syndrome.

STUDY DESIGN: A review of current knowledge, clinical publications, and recent concepts of the causes of Stickler's syndrome was correlated with a clinical review of the condition at the Children's Hospital of Eastern Ontario, Canada. OBJECTIVES: To acquaint orthopedic spine surgeons with the natural history, associated anomalies, and high incidence of spinal deformity and scoliosis in children with Stickler's syndrome. SUMMARY OF BACKGROUND DATA: Stickler's syndrome is a hereditary, progressive arthro-ophthalmopathy with an autosomal dominant inheritance pattern. The estimated incidence is 1 in 10,000 people, which is slightly more common than Marfan syndrome. METHODS: The experience with Stickler's syndrome was reviewed in seven children, 2-15 years of age, with particular attention to the spinal abnormalities secondary to the connective tissue dysplasia. RESULTS: Six of the children had kyphosis or scoliosis, and four had wedging or flattening of the vertebrae or platyspondylia. In general, the spinal changes became more prominent in the older children with Stickler's syndrome, with the spinal vertebrae affected by the generalized epiphyseal dysplasia. The treatment of scoliosis and kyphosis is no different in children with Stickler's syndrome. The most difficult aspect is in diagnosing the condition. CONCLUSIONS: The importance of recognizing the syndrome is to allow for the investigation and treatment of the many other associated connective tissue disorders associated with Stickler's syndrome, such as the high incidence of retinal detachment, mitral valve prolapse, and mandibular hypoplasia that may result in problems with anesthesia should the spine require surgical stabilization.     

Mandibular distraction osteogenesis in patients with craniofacial malformation

Craniofacial malformations (Pierre-Robin sequence, Treacher-Collins syndrome, Nager syndrome, etc.) are frequently associated to severe mandibular hypoplasia, which can cause upper airway obstruction by retroposition of the base of the tongue in the posterior pharyngeal space. Most of the patients respond to postural treatment. In prone decubitus position, it may be necessary to monitor oxygen saturation, insert a nasopharyngeal tube and even an endotracheal one. In more severe cases with prolonged and frequent pauses of apnea, tracheostomy may be necessary, but it is associated with high morbidity and sometimes mortality. In the last two years, in the Multidisciplinary Cleft Lip and Palate Unit of the Hospital Virgen de las Nieves, 4 children with severe obstructive apnea secondary to severe mandibular hypoplasia have been treated with mandibular distraction osteogenesis, this procedure being effective in the resolution of the condition. It has avoided tracheostomy, it has lengthened the jaw in a period of 2-3 weeks. During this time, the obstructive respiratory problems and also swallowing problems have disappeared. The esthetic results were excellent and the complications, for the moment, minimum.     

内置式下颌骨牵引成骨术及其常见并发症的处理

目的 探讨内置式下颌骨牵引成骨术的常见术后并发症发生的原因及防治措施。方法 总结分析1997至2004年采用内置式下颌骨牵引成骨术治疗下颌骨畸形或缺损患者46例61侧，其中半侧颜面短小27例，下颌骨发育不足或小颌畸形双侧8例、单侧4例，电击伤或肿瘤术后缺损畸形3例，Treaeher Colins综合征2例，睡眠呼吸暂停综合征2例。结果 46例61侧发生并发症者9例，包括牵引机械装置故障3例，局部感染2例，前牙开骀2例，皮肤窦道2例。经积极处理后均达到预期治疗目的。结论 减少下颌骨牵引成骨术并发症的关键在于充分理解下颌骨牵引成骨术的机理，熟悉掌握下颌骨及邻近解剖结构，操作规范熟练，充分的术前准备和术后处理尤为重要。     

Cervical spinal stenosis in metatropic dysplasia

Metatropic dysplasia is a rare skeletal dysplasia characterized by rapid collapse of the thoracolumbar spine into kyphoscoliosis. Other spinal anomalies associated with metatropic dysplasia include odontoid hypoplasia and atlantoaxial instability leading to cervical myelopathy. Children with metatropic dysplasia evaluated at our institution for spinal deformity showed evidence of cervical stenosis with or without associated cord compression. Magnetic resonance imaging was found to demonstrate these changes. The association of cervical spinal stenosis and metatropic dysplasia has not been previously described. This has significant treatment implications, because decompression over the stenotic segments should be considered in conjunction with spinal fusion for treatment of odontoid hypoplasia or atlantoaxial instability. A retrospective review of 13 cases of metatropic dysplasia was performed. Despite the challenges provided by this patient population, the chance to halt or reverse neurological dysfunction and improve deformity necessitates prompt surgical intervention.     

Hypoplastic scaphoid--an unusual cause of carpal tunnel syndrome

A case of median nerve compression within the carpal tunnel, secondary to hypoplasia of the carpal scaphoid and dysplasia of the distal radius, is described in a 15-year-old boy with Spondylo-epiphyseal dysplasia tarda. Hypoplastic carpal bones and a dysplastic distal radius may be a feature of Spondylo-epiphyseal dysplasias, but carpal tunnel syndrome has not been previously reported either in this condition or in association with hypoplasia of the scaphoid.     

Familial nail patella-syndrome]

Nail patella-syndrome is a rare hereditary (autosomal dominant) disorder resulting from a heterogenous loss of function in the LMXB1 gene on chromosome 9q34. It is associated with multiple deformities. Patients have a characteristic tetrad of pathologic symptoms including fingernail dysplasia, hypoplastic or absence patella, radial head dislocation, iliac horns and in some cases nephropathy and ophtalmo-logical findings (glaucoma). In this study four affected members in one family are presented. All of the familly members presented absence or hypoplastic patella and fingernails dysplasia. There were not indications for surgical treatment dislocated radial heads or subluxated dysplastic patella. Genetic counseling is recomended because nail patella syndrome is an autosomal dominant disease.     

Rotational acetabular osteotomy for habitual hip dislocation with posterior acetabular wall deficiency in patients with Down syndrome

Hip dislocation associated with Down syndrome is relatively rare. Hip dislocation can progress to severe subluxation or habitual dislocation if the initial therapy is improperly performed. However, definitive treatment guidelines for conservative and surgical therapy for hip dislocation in patients with Down syndrome have not been established. This article describes a case of a 12-year-old girl with Down syndrome with nontraumatic habitual hip dislocation. Her hip joint was associated with acetabular dysplasia and hypoplasia of the posterior acetabular wall. Although conservative therapy was initially performed, no effects were observed. Rotational acetabular osteotomy and capsular plication were performed to reconstruct the posterior acetabular wall. No postoperative redislocation occurred, and the treatment effects were favorably sustained for 2 years. In Down syndrome, few cases of developmental dysplasia and hypoplasia of the posterior acetabular wall have been reported. In previous reports, these morphological abnormalities were rarely taken into consideration when determining the treatment strategy, and to our knowledge, no other reports demonstrate therapy involving rotational acetabular osteotomy for hip dislocation complicated with Down syndrome. Whether the acetabulum had posterior wall deficiency was thought to be important for conservative and surgical therapies in hip dislocation in patients with Down syndrome. Rotational acetabular osteotomy could be an effective surgical procedure for reconstruction of the acetabulum by posterolateral rotation of the osteotomized acetabulum.     

Anaesthetic implications of Nager syndrome

Nager acrofacial dysostosis is an oromandibular hypogenesis syndrome with associated limb abnormalities. Although it shares some phenotypic features with Treacher-Collins syndrome, it is recognized as a separate disorder. The physical features of Nager syndrome include down slanted palpebral fissures, malar hypoplasia, a high nasal bridge, atretic external auditory canals, cleft palate and micrognathia. Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones. Of primary concern to the anaesthetist are the midface and mandibular manifestations which may complicate perioperative airway management. These problems may also manifest in the postoperative period with airway obstruction. Associated defects have included vertebral malformations with reports of cervical spine involvement, congenital cardiac defects and upper limb defects affecting the preaxial or radial side. We describe a 7-year-old boy with Nager syndrome who required anaesthetic care during placement of a syringopleural shunt for drainage of a spinal cord syrinx. The perioperative implications of this disorder are reviewed.     

Aesthetic and Plastic Surgery for Trichorhinophalangeal Syndrome

Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a number of clinical features including short stature, sparse scalp hair, a pear-shaped bulbous nose, upper lip deformity, protruding ears, mandibular hypoplasia, and cone-shaped epiphyses of the phalanges. The syndrome has three subgroups: types I, II, and III. Although a few authors have pointed out the importance of aesthetic and plastic surgery in this syndrome, it has attracted relatively little attention. This review of the literature indicates that many patients have had various surgical corrections for associated abnormalities, including otoplasty and rhinoplasty. Unlike aesthetic or plastic corrections in other well-known congenital disorders, most corrections in trichorhinophalangeal syndrome have been performed prior to a diagnosis of the syndrome. Accurate identification of this syndrome is important to provide appropriate aesthetic treatments. Careful evaluation of patients is required when they present for surgery or aesthetic counseling, because they may have a variety of occult associations such as recurrent respiratory tract infections and urogenital anomalies.     

Poland's syndrome.

Forty-three consecutive cases of Poland's syndrome were analyzed and the relevant literature was reviewed. The syndrome is not hereditary and is of unknown origin. It affects males more frequently than females. The clinical features are variable but always include congenital aplasia and syndactyly. The middle phalanges are hypoplastic or absent so that effectively there is only one interphalangeal joint. The syndactyly is usually incomplete and simple. It may involve all fingers and frequently includes the thumb, which then lies in the same plane as the fingers. Poland's syndrome may also include hypoplasia of the nipple and breast, hypoplasia of the upper ribs, herniation of the lung, contracture of the anterior axillary web, and elevated scapula. The arm and more frequently the forearm are hypoplastic. The right side is more often affected than the left. Surgical treatment by separating the syndactyly is recommended. In some cases a digit is removed to produce a three-fingered hand. Surgery is initiated by the age of one year and is completed by the time the child enters school, although periodic revisions may be necessary. Although the hand remains hypoplastic and functional capacity is limited by the inherent skeletal anomalies, surgical treatment improves functional capacity and cosmetic appearance in the majority of patients.     

Carpal tunnel syndrome in children

Carpal tunnel syndrome (CTS) is rarely seen in children. A literature search in 1989 revealed 52 published cases. The authors review 163 additional cases that were published since that date. The majority of these cases were related with a genetic condition. The most common aetiology was lysosomal storage disease: mucopolysaccharidoses (MPS) in 95 and mucolipidoses (ML) in 22. In CTS secondary to MPS, clinical signs typical of adult CTS are rarely seen, and difficulty with fine motor tasks is the most frequent finding. CTS in MPS does not seem to be prevented by bone marrow transplantation, the usual treatment for the condition. CTS is probably due to a combination of excessive lysosomal storage in the connective tissue of the flexor retinaculum and a distorted anatomy because of underlying bone dysplasia. Mucolipidoses come next in the aetiology, with essentially similar symptoms. The authors found in the literature 11 cases of primary familial CTS, a condition which presents as an inheritable disorder of connective tissue mediated by an autosomal dominant gene; the symptoms may be more typical in some cases, but are more similar to MPS in others. A case with self-mutilation has been reported. Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal dominant condition characterised by episodes of decreased sensation or palsies after slight traction or pressure on peripheral nerves; it may also give symptoms of CTS. Schwartz-Jampel syndrome (SJS), another genetic disorder with autosomal recessive skeletal dysplasia, is characterised by varying degrees of myotonia and chondrodysplasia; it has also been noted associated with CTS in a child. Melorrheostosis and Leri's syndrome have also been noted in children with CTS, as well as Déjerine-Sottas syndrome and Weill-Marchesani syndrome. Among non-genetic causes of CTS in children, idiopathic cases with children onset have been reported, usually but not always related with thickening of the transverse carpal ligament. Intensive sports practice has been reported as an aetiological factor in several cases of childhood CTS. Nerve territory oriented macrodactily, a benign localised form of gigantism, is another unusual cause of CTS in children, as are fibrolipomas of the median nerve or intraneural perineuroma or haemangioma of the median nerve. Acute cases have been reported in children with haemophilia, secondary to local bleeding. Another local cause is a musculotendinous malformation of the palmaris longus, the flexor digitorum superficialis, the flexor carpi radialis brevis (a supernumerary muscle), the first lumbricalis or the palmaris brevis. Isolated cases of childhood CTS have also been reported in Klippel-Trenaunay syndrome, in Poland's syndrome and in scleroderma. Finally, several cases have been noted following trauma, most often related with epiphysiolysis of the distal radius. Immediate reduction has cleared the problem in most cases, but exploration of the median nerve should be considered otherwise, and also in cases with delayed occurrence of symptoms. Overall 145 of the 163 reviewed cases have undergone open carpal tunnel release. Childhood CTS often has an unusual presentation, with modest complaints and children are often too young to communicate their problem. In CTS with specific aetiologies such as storage disease, the symptoms may be masked by the skeletal dysplasia and joint stiffness. Every child with even mild symptoms must be thoroughly examined and a family history must be taken. Children with storage disease may benefit from early clinical and electrophysiological screening before they develop obvious clinical signs.     

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder affecting skeletal development. The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and minimal decrease in joint mobility. The most notable radiographic findings are a lacy iliac crest apophysis, hip dysplasia, double vertebral hump, and odontoid hypoplasia with atlanto-axial instability. Patients may require orthopedic femoral osteotomy, total hip arthroplasty, early meniscectomy, realignment osteotomy, or posterior cervical spine fusion. Patients with the Smith McCort variant have similar orthopaedic manifestations but are not mentally retarded. The diagnosis may be confirmed histologically, but no biochemical or developmental defect has been defined as yet. The authors report seven affected members of two families from Guam and describe their orthopaedic treatment. The authors review the historical reports, clinical findings, and diagnostic radiographic features in DMC syndrome.     

Horseshoe lung with left lung hypoplasia.

Horseshoe lung is an uncommon congenital malformation in which the bases of the right and the left lungs are fused to each other by a narrow isthmus posterior to the cardiac apex. So far 22 cases have been described: most of these were associated with right lung hypoplasia and the scimitar syndrome. A horseshoe lung anomaly with left lung hypoplasia is described.     

Characteristics of patients with hypoplastic thumb: a prospective study of 51 patients with the results of surgical treatment

The aim of this study was to characterize a group of patients with hypoplasia of the thumb, classifying them, describing the associated anomalies and to evaluate the results of surgical treatment of such cases. Thumb hypoplasia is a complex and heterogeneous congenital disorder that is detrimental to hand functions. The characteristics of patients with these anomalies are not well described in the literature. A prospective study on 51 patients with 82 hypoplastic thumbs was done. All the patients' data regarding their personal, family, pregnancy and developmental histories were recorded. All the patients were exposed to thorough clinical examination with genetic assessment and radiological examination including abdominal ultrasonography and echocardiography when requested by the paediatrician. The cases were classified using the modified Blauth classification into five types and we added the five-fingered hand. Surgical treatment was performed for 26 hands in 18 patients and the postoperative results were recorded with an average duration of follow-up of 38.6 months. Of the 51 patients, there was a positive consanguinity in 23.5%. Eighty-six per cent were found to have associated anomalies. Type V thumb hypoplasia was the most common type followed by type IV, with type I being the least common. All the patients' parents were satisfied with the results of surgical treatment and noticed improvement of the performance of the operated hands in the daily activities. We detected some anomalies that have never been described before or described as case reports only; such as lacunar skull, congenital facial palsy and toe amputation; we also described familial radial side dysplasia with variable presentation of congenital anomalies of the thumb in the families. In addition, we think that the five-fingered hand should be added to the classification of thumb hypoplasia. Our study agrees with the literature regarding the distribution of different types of hypoplasia of the thumb, the incidence of associated anomalies and the results of surgical treatment.     

Glenoid hypoplasia. Description of a clinical case and analysis of the literature

Glenoid hypoplasia, or dysplasia of the scapular neck, is a relatively rare alteration that in most cases involves the pectoral girdle in a bilateral and symmetrical manner. In general, glenoid hypoplasia is associated with skeletal changes such as hypoplasia of the humeral head, or changes in the morphology of the acromion and of the coracoid. The authors describe a case of unilateral glenoid hypoplasia, which was symptomatic for a few years, reporting the clinical-radiographic findings and based on the data published in the literature reporting how this disease, which often goes unrecognized, is much more frequent than is imagined.     

Posterior urethral stenosis in newborn with renal nonfunction syndrome

A newborn male infant presented with the “renal nonfunction syndrome” and subsequently was found at autopsy to have congenital stenosis of the posterior urethra. Additional urinary tract malformations included a prostatic diverticulum, bladder hypertrophy, bilateral hydroureter, and bilateral renal hypoplasia with dysplasia. Autopsy evidence suggested that the urethral stenosis had manifested itself very early during embryologic development and accounted for the associated urinary anomalies. The infant had the physical stigmata, clinical course, and pulmonary hypoplasia commonly observed in “Potter’s” or the “renal nonfunction syndrome.”     

Horseshoe lung with left lung hypoplasia and critical pulmonary venous stenosis

Horseshoe lung is a rare congenital anomaly characterized by an isthmus of the pulmonary parenchyma that extends posterior to the pericardial reflection at the cardiac apex and across the midline. There is unilateral, usually right-lung hypoplasia and most cases are associated with the scimitar syndrome. We present the case of an infant with horseshoe lung but with hypoplasia of the left lung and levocardia that was not associated with the scimitar syndrome.     

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis

 There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and nervous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common developmental and genetic features. Received December 30, 1996; received in revised form and accepted May 8, 1997